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Y chromosome mosaicism is associated with age-related macular degeneration.
Grassmann F, Kiel C, den Hollander AI, Weeks DE, Lotery A, Cipriani V, Weber BHF; International Age-related Macular Degeneration Genomics Consortium (IAMDGC). Grassmann F, et al. Among authors: den hollander ai. Eur J Hum Genet. 2019 Jan;27(1):36-41. doi: 10.1038/s41431-018-0238-8. Epub 2018 Aug 29. Eur J Hum Genet. 2019. PMID: 30158665 Free PMC article.
Basal laminar drusen caused by compound heterozygous variants in the CFH gene.
Boon CJ, Klevering BJ, Hoyng CB, Zonneveld-Vrieling MN, Nabuurs SB, Blokland E, Cremers FP, den Hollander AI. Boon CJ, et al. Among authors: den hollander ai. Am J Hum Genet. 2008 Feb;82(2):516-23. doi: 10.1016/j.ajhg.2007.11.007. Am J Hum Genet. 2008. PMID: 18252232 Free PMC article.
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. Thiadens AA, et al. Among authors: den hollander ai. Am J Hum Genet. 2009 Aug;85(2):240-7. doi: 10.1016/j.ajhg.2009.06.016. Epub 2009 Jul 16. Am J Hum Genet. 2009. PMID: 19615668 Free PMC article.
Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging.
Smailhodzic D, Fleckenstein M, Theelen T, Boon CJ, van Huet RA, van de Ven JP, Den Hollander AI, Schmitz-Valckenberg S, Hoyng CB, Weber BH, Holz FG, Klevering BJ. Smailhodzic D, et al. Among authors: den hollander ai. Invest Ophthalmol Vis Sci. 2011 Nov 21;52(12):8908-18. doi: 10.1167/iovs.11-7926. Invest Ophthalmol Vis Sci. 2011. PMID: 22003107 Clinical Trial.
Complement factor D in age-related macular degeneration.
Stanton CM, Yates JR, den Hollander AI, Seddon JM, Swaroop A, Stambolian D, Fauser S, Hoyng C, Yu Y, Atsuhiro K, Branham K, Othman M, Chen W, Kortvely E, Chalmers K, Hayward C, Moore AT, Dhillon B, Ueffing M, Wright AF. Stanton CM, et al. Among authors: den hollander ai. Invest Ophthalmol Vis Sci. 2011 Nov 11;52(12):8828-34. doi: 10.1167/iovs.11-7933. Invest Ophthalmol Vis Sci. 2011. PMID: 22003108 Free PMC article.
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E; European Retinal Disease Consortium; den Hollander AI, Klevering BJ, Cremers FP. Estrada-Cuzcano A, et al. Among authors: den hollander ai. Am J Hum Genet. 2012 Jan 13;90(1):102-9. doi: 10.1016/j.ajhg.2011.11.015. Epub 2011 Dec 15. Am J Hum Genet. 2012. PMID: 22177090 Free PMC article.
292 results